Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

Front Genet. 2021 Jun 21:12:684067. doi: 10.3389/fgene.2021.684067. eCollection 2021.

¹ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

No abstract available

Keywords: GBA1; Gaucher disease; genotyping; glucocerebrosidase; next-generation sequencing; pseudogene.